Research Article
Volume 11 Issue 8 - 2022
Experience of One and Half Decades of Newborn Screening in India
R Kishore Kumar1,2,3*, Akash Nevilebasappa4, Arvind Shenoi5, Nandini Nagar6 and Hari Das7

1Senior Consultant Neonatologist, Neonatology, Cloudnine Hospitals, Bangalore, Karnataka, India

2Adjunct Professor of Neonatology, Notre Dame University, Perth, Australia

3Visiting Consultant, Indira Gandhi Institute of Child Health, Bangalore, India

4Senior Biochemist, Acquity Labs, Bangalore, India

5Senior Neonatologist and Medical Director, India

6DNB, Consultant, Neonatologist, Cloudnine Hospitals, Bangalore, Karnataka, India

7DCP, Consultant Pathologist, Cloudnine Hospital, Jayanagar, Bangalore, India

*Corresponding Author: R Kishore Kumar, Senior Consultant Neonatologist, Neonatology, Cloudnine Hospitals, Bangalore, Karnataka, India.
Received: June 17,2022; Published: July 26, 2022


Background: Newborn screening saves lives and can ensure better survivability, as it detects the disorders at the earliest and helps in preventing serious consequences that may arise in the future.

Objective: To present data on NBS from our tertiary centers along with the success of implementing therapy and follow up.

Methods: We retrospectively reviewed NBS data from January 2005 to May 2020 from three tertiary centers. The incidence of congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), galactosemia, glucose 6 phosphate dehydrogenase (G6PD) deficiency, amino acids/urea cycle disorder, fatty acid/organic acid disorder, cystic fibrosis, biotinidase deficiency and phenylketonuria (PKU) among neonates was recorded. We also report on their follow up to explain its implications.

Results: A total of 668,327 neonates were screened for fifty conditions. While hemoglobinopathies (1:70 of 28392 total screens) had the highest presumptive incidence followed by G6PD deficiency (1:280 of 98,052 total screens), phenylketonuria (1:16,408 of 57,675 total screens), followed by galactosemia (1:7188 of 933,318 total screens) and biotinidase deficiency (1:5440 of 63,598 total screens) had the lowest incidence. The incidence of CH and CAH was found to be 1:594 from 102,903 total screens and 1:4567 from 95,155 total screens, respectively. Metabolic conditions though individually rare, collectively accounted for significant numbers.

Conclusion: The current study highlights the incidence of several conditions including hemoglobinopathies, G6PD deficiency, congenital hypothyroidism (CH) and congenital adrenal hyperplasia over one and a half decades in a large pool of neonates. This study also demonstrates the feasibility of early testing of screen positive neonates and establishing a complete diagnosis and initiating therapy in the recommended time.


Keywords: Dried Blood Spot; Inborn Errors of Metabolism; Newborn Screening; Neonatal Disorder


  1. El-Hattab AW., et al. “Newborn Screening: History, Current Status, and Future Directions”. Pediatric Clinics of North America 65 (2018): 389-305.
  2. European Union Network of Experts on Newborn Screening. Newborn screening in Europe: Expert Opinion document (2020).
  3. National Institute of Child Health and Development. How many newborns are screened in the United States? (2020).
  4. Ojodu J., et al. “NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center”. International Journal of Neonatal Screening 4 (2017): 1-10.
  5. New STEPs. Newborn Screening Status for All Disorders (2020).
  6. Padilla CD and Therrell BL. “Newborn screening in the Asia Pacific region”. Journal of Inherited Metabolic Disease 30 (2007): 490-406.
  7. Devi AR and Naushad SM. “Newborn Screening in India”. Indian Journal of Pediatrics 71 (2004): 157-160.
  8. Mookken T. “Universal Implementation of Newborn Screening in India”. International Journal of Neonatal Screening 6 (2020): 24.
  9. Kumar K., et al. “Newborn Screening for Congenital Hypothyroidism in India– Is OVERDUE”. Biology of the Neonate 3 (2014): 1000129.
  10. Kishore Kumar R., et al. “Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?” The Journal of Obstetrics and Gynecology of India 66 (2016): 415-419.
  11. Sanghvi U and Diwakar KK. “Universal newborn screening for congenital hypothyroidism”. Indian Pediatrics 45 (2008): 331-332.
  12. Gopalakrishnan V., et al. “Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India”. Indian Pediatrics 51 (2014): 701-705.
  13. ICMR Task Force on Inherited Metabolic Disorders. “Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia”. Indian Journal of Pediatrics 85 (2018): 935-940.
  14. Kaur G., et al. “Current and future perspective of newborn screening: an Indian scenario”. Journal of Pediatric Endocrinology and Metabolism 29 (2016): 5-13.
  15. Kommalur A., et al. “Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India-Three Years Experience”. Journal of Tropical Pediatrics 66 (2020): 284-289.
  16. Sharma P., et al. “Prevalence of Inborn Errors of Metabolism in Neonates”. Journal of Clinical and Diagnostic Research 12 (2018): BC07-13.
  17. Verma J., et al. “Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India”. The Journal of Pediatric Intensive Care 9 (2020): 40-44.
  18. Jain DL., et al. “Newborn screening shows a high incidence of sickle cell anemia in Central India”. Hemoglobin 36 (2012): 316-322.
  19. Upadhye DS., et al. “Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India”. PLoS One 11 (2016): e0147081.
  20. NITI Aayog. Government of India (2020).
  21. Godinho MA., et al. “Mapping Neonatal Mortality in India: A Closer Look”. Indian Journal of Community Medicine 42 (2017): 234-237.
Citation: R Kishore Kumar., et al. “Experience of One and Half Decades of Newborn Screening in India”. EC Paediatrics 11.8 (2022): 17-26.

PubMed Indexed Article

EC Pharmacology and Toxicology
LC-UV-MS and MS/MS Characterize Glutathione Reactivity with Different Isomers (2,2' and 2,4' vs. 4,4') of Methylene Diphenyl-Diisocyanate.

PMID: 31143884 [PubMed]

PMCID: PMC6536005

EC Pharmacology and Toxicology
Alzheimer's Pathogenesis, Metal-Mediated Redox Stress, and Potential Nanotheranostics.

PMID: 31565701 [PubMed]

PMCID: PMC6764777

EC Neurology
Differences in Rate of Cognitive Decline and Caregiver Burden between Alzheimer's Disease and Vascular Dementia: a Retrospective Study.

PMID: 27747317 [PubMed]

PMCID: PMC5065347

EC Pharmacology and Toxicology
Will Blockchain Technology Transform Healthcare and Biomedical Sciences?

PMID: 31460519 [PubMed]

PMCID: PMC6711478

EC Pharmacology and Toxicology
Is it a Prime Time for AI-powered Virtual Drug Screening?

PMID: 30215059 [PubMed]

PMCID: PMC6133253

EC Psychology and Psychiatry
Analysis of Evidence for the Combination of Pro-dopamine Regulator (KB220PAM) and Naltrexone to Prevent Opioid Use Disorder Relapse.

PMID: 30417173 [PubMed]

PMCID: PMC6226033

EC Anaesthesia
Arrest Under Anesthesia - What was the Culprit? A Case Report.

PMID: 30264037 [PubMed]

PMCID: PMC6155992

EC Orthopaedics
Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment.

PMID: 30198026 [PubMed]

PMCID: PMC6124505

EC Pulmonology and Respiratory Medicine
Prevalence and factors associated with self-reported chronic obstructive pulmonary disease among adults aged 40-79: the National Health and Nutrition Examination Survey (NHANES) 2007-2012.

PMID: 30294723 [PubMed]

PMCID: PMC6169793

EC Dental Science
Important Dental Fiber-Reinforced Composite Molding Compound Breakthroughs

PMID: 29285526 [PubMed]

PMCID: PMC5743211

EC Microbiology
Prevalence of Intestinal Parasites Among HIV Infected and HIV Uninfected Patients Treated at the 1o De Maio Health Centre in Maputo, Mozambique

PMID: 29911204 [PubMed]

PMCID: PMC5999047

EC Microbiology
Macrophages and the Viral Dissemination Super Highway

PMID: 26949751 [PubMed]

PMCID: PMC4774560

EC Microbiology
The Microbiome, Antibiotics, and Health of the Pediatric Population.

PMID: 27390782 [PubMed]

PMCID: PMC4933318

EC Microbiology
Reactive Oxygen Species in HIV Infection

PMID: 28580453 [PubMed]

PMCID: PMC5450819

EC Microbiology
A Review of the CD4 T Cell Contribution to Lung Infection, Inflammation and Repair with a Focus on Wheeze and Asthma in the Pediatric Population

PMID: 26280024 [PubMed]

PMCID: PMC4533840

EC Neurology
Identifying Key Symptoms Differentiating Myalgic Encephalomyelitis and Chronic Fatigue Syndrome from Multiple Sclerosis

PMID: 28066845 [PubMed]

PMCID: PMC5214344

EC Pharmacology and Toxicology
Paradigm Shift is the Normal State of Pharmacology

PMID: 28936490 [PubMed]

PMCID: PMC5604476

EC Neurology
Examining those Meeting IOM Criteria Versus IOM Plus Fibromyalgia

PMID: 28713879 [PubMed]

PMCID: PMC5510658

EC Neurology
Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature

PMID: 28133641 [PubMed]

PMCID: PMC5267489

EC Ophthalmology
OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling

PMID: 29333536 [PubMed]

PMCID: PMC5766278

EC Neurology
Longer Duration of Downslope Treadmill Walking Induces Depression of H-Reflexes Measured during Standing and Walking.

PMID: 31032493 [PubMed]

PMCID: PMC6483108

EC Microbiology
Onchocerciasis in Mozambique: An Unknown Condition for Health Professionals.

PMID: 30957099 [PubMed]

PMCID: PMC6448571

EC Nutrition
Food Insecurity among Households with and without Podoconiosis in East and West Gojjam, Ethiopia.

PMID: 30101228 [PubMed]

PMCID: PMC6086333

EC Ophthalmology
REVIEW. +2 to +3 D. Reading Glasses to Prevent Myopia.

PMID: 31080964 [PubMed]

PMCID: PMC6508883

EC Gynaecology
Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions.

PMID: 31093608 [PubMed]

PMCID: PMC6513001

EC Dental Science
Fiber-Reinforced Composites: A Breakthrough in Practical Clinical Applications with Advanced Wear Resistance for Dental Materials.

PMID: 31552397 [PubMed]

PMCID: PMC6758937

EC Microbiology
Neurocysticercosis in Child Bearing Women: An Overlooked Condition in Mozambique and a Potentially Missed Diagnosis in Women Presenting with Eclampsia.

PMID: 31681909 [PubMed]

PMCID: PMC6824723

EC Microbiology
Molecular Detection of Leptospira spp. in Rodents Trapped in the Mozambique Island City, Nampula Province, Mozambique.

PMID: 31681910 [PubMed]

PMCID: PMC6824726

EC Neurology
Endoplasmic Reticulum-Mitochondrial Cross-Talk in Neurodegenerative and Eye Diseases.

PMID: 31528859 [PubMed]

PMCID: PMC6746603

EC Psychology and Psychiatry
Can Chronic Consumption of Caffeine by Increasing D2/D3 Receptors Offer Benefit to Carriers of the DRD2 A1 Allele in Cocaine Abuse?

PMID: 31276119 [PubMed]

PMCID: PMC6604646

EC Anaesthesia
Real Time Locating Systems and sustainability of Perioperative Efficiency of Anesthesiologists.

PMID: 31406965 [PubMed]

PMCID: PMC6690616

EC Pharmacology and Toxicology
A Pilot STEM Curriculum Designed to Teach High School Students Concepts in Biochemical Engineering and Pharmacology.

PMID: 31517314 [PubMed]

PMCID: PMC6741290

EC Pharmacology and Toxicology
Toxic Mechanisms Underlying Motor Activity Changes Induced by a Mixture of Lead, Arsenic and Manganese.

PMID: 31633124 [PubMed]

PMCID: PMC6800226

EC Neurology
Research Volunteers' Attitudes Toward Chronic Fatigue Syndrome and Myalgic Encephalomyelitis.

PMID: 29662969 [PubMed]

PMCID: PMC5898812

EC Pharmacology and Toxicology
Hyperbaric Oxygen Therapy for Alzheimer's Disease.

PMID: 30215058 [PubMed]

PMCID: PMC6133268

News and Events

March Issue Release

We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the March issue of respective journals and the latest articles can be viewed on the current issue pages.

Submission Deadline for Upcoming Issue

ECronicon delightfully welcomes all the authors around the globe for effective collaboration with an article submission for the upcoming issue of respective journals. Submissions are accepted on/before April 14, 2023.

Certificate of Publication

ECronicon honors with a "Publication Certificate" to the corresponding author by including the names of co-authors as a token of appreciation for publishing the work with our respective journals.

Best Article of the Issue

Editors of respective journals will always be very much interested in electing one Best Article after each issue release. The authors of the selected article will be honored with a "Best Article of the Issue" certificate.

Certifying for Review

ECronicon certifies the Editors for their first review done towards the assigned article of the respective journals.

Latest Articles

The latest articles will be updated immediately on the articles in press page of the respective journals.